Nettore, 2013: Overview of all reported CHOR-NKX2-1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
BRA
17
n.a.
Yes
-Motor
Chorea
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
Hypothyroidism
Chorea
Cognitive impairment
-Motor
Show more (+1)
Hypothyroidism
Chorea
No
n.a.
BRA
n.a.
n.a.
Yes
-Motor
Hypothyroidism
Chorea
Chorea
No
n.a.
BRA
22
n.a.
Yes
-Motor
Dystonia (any or unspecified)
Dystonia, cervical
Chorea
Dystonia
Hypothyroidism
Show more (+3)
Dystonia, cervical
Hypothyroidism
Yes
n.a.
BRA
n.a.
n.a.
Yes
Gait impairment
Chorea
-Motor
Cerebellar signs
Motor delay
Delayed fine motor development
Global developmental delay
Delayed gross motor development
Developmental delay
Ataxia
Hypothyroidism
Show more (+8)
Chorea
Motor delay